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C31 -
Mitochondrial Disorders in Neurology

Event Time:

Saturday May 4, 2019 1:30 pm to 3:30 pm

Topic(s):

General Neurology

Director(s):

Michio Hirano MD, FAAN

Description:

Mitochondrial dysfunction accounts for an ever-increasing number of neurologic disorders (mitochondrial encephalomyopathies). Faculty will discuss basic concepts of mitochondrial biogenesis and the dual (and often overlapping) roles of mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) in causing these frustratingly heterogeneous clinical disorders. The increasing application of new-generation exome sequencing is revealing novel pathogenic mechanisms and revising traditional classifications of mitochondrial diseases. In practical terms, faculty will cover the impact of new scientific knowledge on the diagnostic approach to mitochondrial diseases and to emerging experimental therapeutic options.

Completion Message:

Participants should be familiar with recent progress in mitochondrial genetics; gain a better understanding of the relationships, which are not always straightforward, between mutations in either genome (mtDNA or nDNA) and clinical presentations; learn useful clues to the correct diagnosis; glean ideas about pathogenesis (energy shortage, oxidative stress); and get a realistic understanding of palliative and experimental therapy.